Product Details

SNP ID
rs199547050
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49022734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATACGGGAGCGAGCCAGGTACAC[A/G]TTGTTCTTCCATTCGGTGCGCAGCC
Phenotype
MIM: 602113 MIM: 602742
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KMT2D PubMed Links

Gene Details

Gene
KMT2D
Gene Name
lysine methyltransferase 2D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003482.3 17530 Silent Mutation AAC,AAT N5398N NP_003473.3
XM_005269162.4 17530 Silent Mutation AAC,AAT N5398N XP_005269219.1
XM_006719614.3 17530 Silent Mutation AAC,AAT N5401N XP_006719677.1
XM_006719616.3 17530 Silent Mutation AAC,AAT N5397N XP_006719679.1
XM_011538770.2 17530 Silent Mutation AAC,AAT N5417N XP_011537072.1
XM_011538771.2 17530 Silent Mutation AAC,AAT N5416N XP_011537073.1
XM_011538772.2 17530 Silent Mutation AAC,AAT N5414N XP_011537074.1
XM_011538773.2 17530 Silent Mutation AAC,AAT N5413N XP_011537075.1
XM_011538774.2 17530 Silent Mutation AAC,AAT N5410N XP_011537076.1
XM_011538776.2 17530 Silent Mutation AAC,AAT N5386N XP_011537078.1
Gene
PRKAG1
Gene Name
protein kinase AMP-activated non-catalytic subunit gamma 1
There are no transcripts associated with this gene.

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